Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183126342G>A , CM000663.2:g.183126342G>A | GRCh38 |
| NC_000001.10:g.183095477G>A , CM000663.1:g.183095477G>A | GRCh37 |
| NC_000001.9:g.181362100G>A | NCBI36 |
| NG_011463.1:g.107883G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002293.4:c.2944+80G>A MANE Select | NP_002284.3:n.2944+80G>A |
| ENST00000258341.5:c.2944+80G>A MANE Select | ENSP00000258341.3:n.2944+80G>A |
| NM_002293.3:c.2944+80G>A | NP_002284.3:n.2944+80G>A |
| ENST00000258341.4:c.2944+80G>A | ENSP00000258341.3:n.2944+80G>A |
| ENST00000466964.1:n.506+80G>A |